Hereditary spastic paraplegias (HSPs) are a group of inherited neurodegenerative disorders characterized by progressive weakness and spasticity (stiffness) of the legs. Mutations in more than 30 genes have been linked to HSPs. A team of researchers — led by Stephan Züchner, at the University of Miami Miller School of Medicine, Miami; Evan Reid, at the University of Cambridge, United Kingdom; and Antonio Orlacchio, at the Centro Europeo di Ricerca sul Cervello–Istituto di Ricovero e Cura a Carattere Scientifico Santa Lucia, Italy — has now associated mutations in the gene reticulon 2 with hereditary spastic paraplegia type 12. In addition to identifying a new HSP-associated gene, the team was able to uncover how the mutations in reticulon 2 are likely to cause neurodegeneration, providing new insight into this diverse group of inherited disorders.
TITLE: Mutations in the ER-shaping protein cause the axon-degenerative disorder hereditary spastic paraplegia type 12
AUTHOR CONTACT:
Stephan Züchner
University of Miami Miller School of Medicine, Miami, Florida, USA.
Phone: 305-243-2281; Fax: 305-243-2703; E-mail: szuchner@med.miami.edu .
Evan Reid
University of Cambridge, Cambridge Institute for Medical Research, Cambridge, United Kingdom.
Phone: 44-1223-762602; Fax: 44-1223-762640; E-mail: ealr4@cam.ac.uk .
Antonio Orlacchio
Centro Europeo di Ricerca sul Cervello–Istituto di Ricovero e Cura a Carattere Scientifico Santa Lucia, Rome, Italy.
Phone: 39-06-501703308; Fax: 39-06-501703312; E-mail: a.orlacchio@hsantalucia.it .
Journal of Clinical Investigation